ABCD2 ATP binding cassette subfamily D member 2

Information
Symbol
ABCD2
Type
protein-coding
Description
ATP binding cassette subfamily D member 2
Entrez Gene ID
225
Genome
hg19
Position
chr12:39,943,835-40,013,605
Genome
hg38
Position
chr12:39,550,033-39,619,803
MIM
601081 OMIM
HGNC
HGNC:66 HGNC
Ensembl
ENSG00000173208 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 2
Likely benign 0 2
Uncertain significance 0 58
Ranking
ClinVar
0
0
0
58
4
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
[No Data.]
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
Category :
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Variant name Gene AA change CDS Japanese
frequency		 TogoVar MGeND Genome ClinVar CIViC evidence DisGeNET entry COSMIC
occurrence		 Prediction
Entry Origin Type Annotation Entry Origin Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Gene symbol Chromosome Genomic start Genomic stop Strand Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
TypeID
SYNONYM ABC39
SYNONYM ALDL1
SYNONYM ALDR
SYNONYM ALDRP
SYNONYM hALDR
MIM 601081 OMIM
HGNC HGNC:66 HGNC
Ensembl ENSG00000173208 Ensembl
AllianceGenome HGNC:66
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000308666.4 hg38 chr12 39,550,033 39,619,803 69,771
ENST00000308666.4 hg19 chr12 39,943,835 40,013,605 69,771
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